Article
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.
Neurogenetics - 1 Jul 2010
Kabzińska Dagmara, Strugalska-Cynowska Halina, Kostera-Pruszczyk Anna, Ryniewicz Barbara, Posmyk Renata, Midro Alina, Seeman Pavel, Báranková Lucia, Zimoń Magdalena, Baets Jonathan, Timmerman Vincent, Guergueltcheva Velina, Tournev Ivailo, Sarafov Stayko, De Jonghe Peter, Jordanova Albena, Hausmanowa-Petrusewicz Irena, Kochański Andrzej
Abstract excerpt
Over 40 mutations in the GDAP1 gene have been shown to segregate with Charcot-Marie-Tooth disease (CMT). Among these, only two mutations, i.e., S194X and Q163X have been reported in a sufficient number of CMT families to allow for the construction of reliable phenotype-genotype correlations. Both the S194X and Q163X mutations have been shown to segregate with an early-onset and severe neuropathy resulting in loss...
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